Incidental Mutation 'PIT4802001:Tmc5'
ID 556732
Institutional Source Beutler Lab
Gene Symbol Tmc5
Ensembl Gene ENSMUSG00000030650
Gene Name transmembrane channel-like gene family 5
Synonyms 4932443L08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # PIT4802001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 118196520-118274308 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118271449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 921 (M921L)
Ref Sequence ENSEMBL: ENSMUSP00000112434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057320] [ENSMUST00000098088] [ENSMUST00000121715] [ENSMUST00000121744]
AlphaFold Q32NZ6
Predicted Effect probably benign
Transcript: ENSMUST00000057320
AA Change: M711L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049784
Gene: ENSMUSG00000030650
AA Change: M711L

DomainStartEndE-ValueType
transmembrane domain 203 225 N/A INTRINSIC
transmembrane domain 238 260 N/A INTRINSIC
transmembrane domain 275 297 N/A INTRINSIC
transmembrane domain 371 393 N/A INTRINSIC
transmembrane domain 408 430 N/A INTRINSIC
transmembrane domain 451 473 N/A INTRINSIC
Pfam:TMC 476 581 8.1e-44 PFAM
transmembrane domain 586 608 N/A INTRINSIC
transmembrane domain 652 674 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098088
AA Change: M921L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095694
Gene: ENSMUSG00000030650
AA Change: M921L

DomainStartEndE-ValueType
internal_repeat_1 7 105 2.08e-10 PROSPERO
internal_repeat_2 10 108 2.75e-10 PROSPERO
internal_repeat_2 127 234 2.75e-10 PROSPERO
internal_repeat_1 152 266 2.08e-10 PROSPERO
transmembrane domain 413 435 N/A INTRINSIC
transmembrane domain 448 470 N/A INTRINSIC
transmembrane domain 485 507 N/A INTRINSIC
transmembrane domain 581 603 N/A INTRINSIC
transmembrane domain 618 640 N/A INTRINSIC
transmembrane domain 661 683 N/A INTRINSIC
Pfam:TMC 686 791 1.2e-42 PFAM
transmembrane domain 796 818 N/A INTRINSIC
transmembrane domain 862 884 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121715
AA Change: M921L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112434
Gene: ENSMUSG00000030650
AA Change: M921L

DomainStartEndE-ValueType
internal_repeat_1 7 105 2.08e-10 PROSPERO
internal_repeat_2 10 108 2.75e-10 PROSPERO
internal_repeat_2 127 234 2.75e-10 PROSPERO
internal_repeat_1 152 266 2.08e-10 PROSPERO
transmembrane domain 413 435 N/A INTRINSIC
transmembrane domain 448 470 N/A INTRINSIC
transmembrane domain 485 507 N/A INTRINSIC
transmembrane domain 581 603 N/A INTRINSIC
transmembrane domain 618 640 N/A INTRINSIC
transmembrane domain 661 683 N/A INTRINSIC
Pfam:TMC 686 791 1.1e-43 PFAM
transmembrane domain 796 818 N/A INTRINSIC
transmembrane domain 862 884 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121744
AA Change: M921L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114137
Gene: ENSMUSG00000030650
AA Change: M921L

DomainStartEndE-ValueType
internal_repeat_1 7 105 2.08e-10 PROSPERO
internal_repeat_2 10 108 2.75e-10 PROSPERO
internal_repeat_2 127 234 2.75e-10 PROSPERO
internal_repeat_1 152 266 2.08e-10 PROSPERO
transmembrane domain 413 435 N/A INTRINSIC
transmembrane domain 448 470 N/A INTRINSIC
transmembrane domain 485 507 N/A INTRINSIC
transmembrane domain 581 603 N/A INTRINSIC
transmembrane domain 618 640 N/A INTRINSIC
transmembrane domain 661 683 N/A INTRINSIC
Pfam:TMC 686 791 1.1e-43 PFAM
transmembrane domain 796 818 N/A INTRINSIC
transmembrane domain 862 884 N/A INTRINSIC
Coding Region Coverage
  • 1x: 93.6%
  • 3x: 91.0%
  • 10x: 85.4%
  • 20x: 73.7%
Validation Efficiency
Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A T 11: 119,902,172 (GRCm39) D741E probably benign Het
Abca16 A G 7: 120,139,351 (GRCm39) D1461G probably benign Het
Adam6a G T 12: 113,509,078 (GRCm39) D484Y probably damaging Het
Akap5 T C 12: 76,376,706 (GRCm39) Y713H probably damaging Het
AW554918 A G 18: 25,473,132 (GRCm39) E312G possibly damaging Het
Car4 G A 11: 84,855,231 (GRCm39) A157T probably damaging Het
Chst9 A T 18: 15,585,849 (GRCm39) M238K probably benign Het
Ctbp2 G A 7: 132,589,974 (GRCm39) H397Y possibly damaging Het
Cyp3a59 A G 5: 146,039,611 (GRCm39) M295V probably benign Het
Daglb T C 5: 143,488,803 (GRCm39) Y586H probably benign Het
Ehbp1l1 G T 19: 5,769,603 (GRCm39) P567T possibly damaging Het
Emilin2 A G 17: 71,580,464 (GRCm39) I754T probably damaging Het
Esyt2 G A 12: 116,329,457 (GRCm39) A672T probably benign Het
Evx1 G T 6: 52,291,175 (GRCm39) E116* probably null Het
Exph5 T C 9: 53,286,278 (GRCm39) S1120P probably damaging Het
Fam184a A T 10: 53,560,450 (GRCm39) L515* probably null Het
Flt4 T A 11: 49,523,996 (GRCm39) D525E probably benign Het
Galt T C 4: 41,756,764 (GRCm39) W135R probably damaging Het
Ifitm6 A T 7: 140,596,648 (GRCm39) C42S probably damaging Het
Ift172 A G 5: 31,442,610 (GRCm39) S186P probably benign Het
Kcnk3 A G 5: 30,779,712 (GRCm39) E254G probably damaging Het
Kmt2b A G 7: 30,278,996 (GRCm39) S1509P probably damaging Het
Ky T A 9: 102,414,972 (GRCm39) S295T probably benign Het
Lrba T A 3: 86,571,801 (GRCm39) Y2368* probably null Het
Mtmr4 T A 11: 87,501,953 (GRCm39) V669E probably benign Het
Myh10 C T 11: 68,655,918 (GRCm39) R471C probably damaging Het
Nav1 G A 1: 135,380,671 (GRCm39) T1416I unknown Het
Nrip1 A C 16: 76,090,157 (GRCm39) S467A probably damaging Het
Ntrk1 T A 3: 87,695,941 (GRCm39) N190Y probably damaging Het
Or14a256 A T 7: 86,265,763 (GRCm39) L30Q probably null Het
Or5h25 A C 16: 58,930,964 (GRCm39) M3R probably benign Het
Pdxp A G 15: 78,802,611 (GRCm39) S282G probably damaging Het
Phtf2 A T 5: 21,006,904 (GRCm39) S220T probably damaging Het
Piezo2 A T 18: 63,157,540 (GRCm39) V2390E probably damaging Het
Pop1 T G 15: 34,529,229 (GRCm39) L783R probably benign Het
Prf1 G A 10: 61,135,972 (GRCm39) A83T probably benign Het
Rab4b A G 7: 26,875,267 (GRCm39) V50A probably benign Het
Rtn1 T A 12: 72,351,100 (GRCm39) T370S probably benign Het
Sdr16c5 T A 4: 4,012,423 (GRCm39) I123F probably damaging Het
Smg6 T A 11: 75,046,991 (GRCm39) V1228D probably damaging Het
Smim19 A G 8: 22,963,539 (GRCm39) V23A probably benign Het
Sox13 A T 1: 133,313,996 (GRCm39) I346N probably damaging Het
Tap1 T A 17: 34,412,165 (GRCm39) Y457N probably damaging Het
Tbck C T 3: 132,458,427 (GRCm39) P686S probably damaging Het
Tcof1 A G 18: 60,965,010 (GRCm39) S570P unknown Het
Ttc6 A G 12: 57,772,462 (GRCm39) Y1594C possibly damaging Het
Virma T A 4: 11,546,008 (GRCm39) H1615Q probably damaging Het
Vmn1r19 T A 6: 57,382,037 (GRCm39) Y197N probably damaging Het
Vps13c T C 9: 67,845,068 (GRCm39) F2051L probably damaging Het
Wdr6 C T 9: 108,451,765 (GRCm39) C706Y probably damaging Het
Zfand4 A G 6: 116,261,736 (GRCm39) N100D probably damaging Het
Other mutations in Tmc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01484:Tmc5 APN 7 118,256,010 (GRCm39) missense probably damaging 1.00
IGL01601:Tmc5 APN 7 118,223,047 (GRCm39) unclassified probably benign
IGL01633:Tmc5 APN 7 118,222,809 (GRCm39) missense probably damaging 0.97
IGL01845:Tmc5 APN 7 118,251,733 (GRCm39) missense possibly damaging 0.93
IGL02148:Tmc5 APN 7 118,244,547 (GRCm39) missense probably damaging 0.97
IGL02638:Tmc5 APN 7 118,226,456 (GRCm39) missense probably benign 0.36
IGL02890:Tmc5 APN 7 118,244,653 (GRCm39) splice site probably benign
hipster UTSW 7 118,265,834 (GRCm39) critical splice donor site probably null
F5426:Tmc5 UTSW 7 118,222,546 (GRCm39) missense probably benign
R0068:Tmc5 UTSW 7 118,233,460 (GRCm39) missense probably benign 0.44
R0470:Tmc5 UTSW 7 118,239,154 (GRCm39) missense possibly damaging 0.68
R0520:Tmc5 UTSW 7 118,265,799 (GRCm39) missense probably damaging 1.00
R0786:Tmc5 UTSW 7 118,226,433 (GRCm39) missense possibly damaging 0.94
R1263:Tmc5 UTSW 7 118,266,093 (GRCm39) missense probably damaging 1.00
R1269:Tmc5 UTSW 7 118,265,816 (GRCm39) missense probably benign 0.30
R1486:Tmc5 UTSW 7 118,272,655 (GRCm39) missense probably benign 0.02
R1702:Tmc5 UTSW 7 118,271,462 (GRCm39) missense probably benign 0.00
R2188:Tmc5 UTSW 7 118,254,178 (GRCm39) missense probably damaging 1.00
R3508:Tmc5 UTSW 7 118,244,618 (GRCm39) missense probably benign 0.01
R3893:Tmc5 UTSW 7 118,244,592 (GRCm39) missense probably damaging 1.00
R3927:Tmc5 UTSW 7 118,251,878 (GRCm39) nonsense probably null
R4171:Tmc5 UTSW 7 118,248,810 (GRCm39) missense probably damaging 0.99
R4279:Tmc5 UTSW 7 118,273,886 (GRCm39) makesense probably null
R4554:Tmc5 UTSW 7 118,269,956 (GRCm39) missense probably benign 0.16
R4555:Tmc5 UTSW 7 118,269,956 (GRCm39) missense probably benign 0.16
R4557:Tmc5 UTSW 7 118,269,956 (GRCm39) missense probably benign 0.16
R4833:Tmc5 UTSW 7 118,228,052 (GRCm39) missense probably benign 0.11
R4845:Tmc5 UTSW 7 118,241,604 (GRCm39) missense probably damaging 1.00
R4852:Tmc5 UTSW 7 118,244,562 (GRCm39) missense probably benign 0.32
R5087:Tmc5 UTSW 7 118,244,609 (GRCm39) missense possibly damaging 0.68
R5214:Tmc5 UTSW 7 118,247,155 (GRCm39) missense probably damaging 1.00
R5723:Tmc5 UTSW 7 118,271,416 (GRCm39) missense probably damaging 1.00
R5739:Tmc5 UTSW 7 118,265,834 (GRCm39) critical splice donor site probably null
R5882:Tmc5 UTSW 7 118,254,142 (GRCm39) missense probably damaging 0.99
R5946:Tmc5 UTSW 7 118,269,948 (GRCm39) missense probably damaging 1.00
R6244:Tmc5 UTSW 7 118,233,437 (GRCm39) missense possibly damaging 0.93
R6360:Tmc5 UTSW 7 118,233,189 (GRCm39) start codon destroyed probably null 1.00
R6375:Tmc5 UTSW 7 118,256,037 (GRCm39) missense probably damaging 1.00
R6458:Tmc5 UTSW 7 118,244,539 (GRCm39) missense probably damaging 1.00
R6566:Tmc5 UTSW 7 118,247,067 (GRCm39) missense probably damaging 1.00
R6681:Tmc5 UTSW 7 118,268,527 (GRCm39) missense probably damaging 1.00
R7202:Tmc5 UTSW 7 118,239,179 (GRCm39) missense possibly damaging 0.49
R7227:Tmc5 UTSW 7 118,269,889 (GRCm39) missense possibly damaging 0.81
R7410:Tmc5 UTSW 7 118,222,820 (GRCm39) nonsense probably null
R7562:Tmc5 UTSW 7 118,222,549 (GRCm39) missense probably benign 0.10
R7808:Tmc5 UTSW 7 118,268,440 (GRCm39) missense probably damaging 1.00
R8560:Tmc5 UTSW 7 118,268,514 (GRCm39) missense probably damaging 1.00
R8682:Tmc5 UTSW 7 118,269,925 (GRCm39) missense possibly damaging 0.77
R8778:Tmc5 UTSW 7 118,222,816 (GRCm39) missense unknown
R8832:Tmc5 UTSW 7 118,222,332 (GRCm39) missense probably benign 0.06
R9026:Tmc5 UTSW 7 118,241,594 (GRCm39) missense possibly damaging 0.92
R9064:Tmc5 UTSW 7 118,233,270 (GRCm39) missense probably benign 0.01
R9159:Tmc5 UTSW 7 118,233,264 (GRCm39) missense probably benign
R9258:Tmc5 UTSW 7 118,222,501 (GRCm39) missense probably benign 0.00
Z1177:Tmc5 UTSW 7 118,222,979 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCAGAAGCATGGTGGCCAC -3'
(R):5'- CAGAAAATGAGGGGCCCTAC -3'

Sequencing Primer
(F):5'- ATGGTGGCCACTTCCTTCTGG -3'
(R):5'- CCTGGGCTATATTGCAAGAGAGTCTC -3'
Posted On 2019-06-07